SNP Links for Protein (Select 223468610) - SNP

Links from Protein

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Select item 14828940951.

rs1482894095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:31692499 (GRCh38)
7:31732113 (GRCh37)
Canonical SPDI:: NC_000007.14:31692498:C:A
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000007.14:g.31692499C>A, NC_000007.13:g.31732113C>A, NG_051183.1:g.740726G>T, NG_023417.1:g.10483C>A, NM_006658.5:c.58C>A, NM_006658.4:c.58C>A, NM_001145123.3:c.58C>A, NM_001145123.2:c.58C>A, XR_926912.4:n.186C>A, XR_926912.3:n.186C>A, XR_926912.2:n.216C>A, XR_926912.1:n.216C>A, XM_011515094.3:c.58C>A, XM_011515094.2:c.58C>A, XM_011515094.1:c.58C>A, XR_007059983.1:n.186C>A, NP_006649.2:p.Leu20Ile, NP_001138595.1:p.Leu20Ile, XP_011513396.1:p.Leu20Ile

Select item 14825470282.

rs1482547028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:31692480 (GRCh38)
7:31732094 (GRCh37)
Canonical SPDI:: NC_000007.14:31692479:A:G
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.31692480A>G, NC_000007.13:g.31732094A>G, NG_051183.1:g.740745T>C, NG_023417.1:g.10464A>G, NM_006658.5:c.39A>G, NM_006658.4:c.39A>G, NM_001145123.3:c.39A>G, NM_001145123.2:c.39A>G, XR_926912.4:n.167A>G, XR_926912.3:n.167A>G, XR_926912.2:n.197A>G, XR_926912.1:n.197A>G, XM_011515094.3:c.39A>G, XM_011515094.2:c.39A>G, XM_011515094.1:c.39A>G, XR_007059983.1:n.167A>G

Select item 14765710973.

rs1476571097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:31697068 (GRCh38)
7:31736682 (GRCh37)
Canonical SPDI:: NC_000007.14:31697067:G:C
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.31697068G>C, NC_000007.13:g.31736682G>C, NG_051183.1:g.736157C>G, NG_023417.1:g.15052G>C, NM_006658.5:c.339G>C, NM_006658.4:c.339G>C, NM_001145123.3:c.186G>C, NM_001145123.2:c.186G>C, XR_926912.4:n.467G>C, XR_926912.3:n.467G>C, XR_926912.2:n.497G>C, XR_926912.1:n.497G>C, XM_011515094.3:c.339G>C, XM_011515094.2:c.339G>C, XM_011515094.1:c.339G>C, XR_007059983.1:n.467G>C, NP_006649.2:p.Lys113Asn, NP_001138595.1:p.Lys62Asn, XP_011513396.1:p.Lys113Asn

Select item 14675093664.

rs1467509366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:31692518 (GRCh38)
7:31732132 (GRCh37)
Canonical SPDI:: NC_000007.14:31692517:A:G
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.31692518A>G, NC_000007.13:g.31732132A>G, NG_051183.1:g.740707T>C, NG_023417.1:g.10502A>G, NM_006658.5:c.77A>G, NM_006658.4:c.77A>G, NM_001145123.3:c.77A>G, NM_001145123.2:c.77A>G, XR_926912.4:n.205A>G, XR_926912.3:n.205A>G, XR_926912.2:n.235A>G, XR_926912.1:n.235A>G, XM_011515094.3:c.77A>G, XM_011515094.2:c.77A>G, XM_011515094.1:c.77A>G, XR_007059983.1:n.205A>G, NP_006649.2:p.His26Arg, NP_001138595.1:p.His26Arg, XP_011513396.1:p.His26Arg

Select item 14632460625.

rs1463246062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:31695517 (GRCh38)
7:31735131 (GRCh37)
Canonical SPDI:: NC_000007.14:31695516:C:T
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.31695517C>T, NC_000007.13:g.31735131C>T, NG_051183.1:g.737708G>A, NG_023417.1:g.13501C>T, NM_006658.5:c.131C>T, NM_006658.4:c.131C>T, XR_926912.4:n.259C>T, XR_926912.3:n.259C>T, XR_926912.2:n.289C>T, XR_926912.1:n.289C>T, XM_011515094.3:c.131C>T, XM_011515094.2:c.131C>T, XM_011515094.1:c.131C>T, XR_007059983.1:n.259C>T, NP_006649.2:p.Pro44Leu, XP_011513396.1:p.Pro44Leu

Select item 14599785476.

rs1459978547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:31697111 (GRCh38)
7:31736725 (GRCh37)
Canonical SPDI:: NC_000007.14:31697110:G:C
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.31697111G>C, NC_000007.13:g.31736725G>C, NG_051183.1:g.736114C>G, NG_023417.1:g.15095G>C, NM_006658.5:c.382G>C, NM_006658.4:c.382G>C, NM_001145123.3:c.229G>C, NM_001145123.2:c.229G>C, XR_926912.4:n.510G>C, XR_926912.3:n.510G>C, XR_926912.2:n.540G>C, XR_926912.1:n.540G>C, XM_011515094.3:c.382G>C, XM_011515094.2:c.382G>C, XM_011515094.1:c.382G>C, XR_007059983.1:n.510G>C, NP_006649.2:p.Ala128Pro, NP_001138595.1:p.Ala77Pro, XP_011513396.1:p.Ala128Pro

Select item 14550711777.

rs1455071177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:31697032 (GRCh38)
7:31736646 (GRCh37)
Canonical SPDI:: NC_000007.14:31697031:C:G
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.31697032C>G, NC_000007.13:g.31736646C>G, NG_051183.1:g.736193G>C, NG_023417.1:g.15016C>G, NM_006658.5:c.303C>G, NM_006658.4:c.303C>G, NM_001145123.3:c.150C>G, NM_001145123.2:c.150C>G, XR_926912.4:n.431C>G, XR_926912.3:n.431C>G, XR_926912.2:n.461C>G, XR_926912.1:n.461C>G, XM_011515094.3:c.303C>G, XM_011515094.2:c.303C>G, XM_011515094.1:c.303C>G, XR_007059983.1:n.431C>G, NP_006649.2:p.Ile101Met, NP_001138595.1:p.Ile50Met, XP_011513396.1:p.Ile101Met

Select item 14538658858.

rs1453865885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:31707207 (GRCh38)
7:31746821 (GRCh37)
Canonical SPDI:: NC_000007.14:31707206:T:C
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.31707207T>C, NC_000007.13:g.31746821T>C, NG_051183.1:g.726018A>G, NG_023417.1:g.25191T>C, NM_006658.5:c.392T>C, NM_006658.4:c.392T>C, NM_001145123.3:c.239T>C, NM_001145123.2:c.239T>C, XR_926912.4:n.520T>C, XR_926912.3:n.520T>C, XR_926912.2:n.550T>C, XR_926912.1:n.550T>C, XM_011515094.3:c.392T>C, XM_011515094.2:c.392T>C, XM_011515094.1:c.392T>C, XR_007059983.1:n.520T>C, NP_006649.2:p.Val131Ala, NP_001138595.1:p.Val80Ala, XP_011513396.1:p.Val131Ala

Select item 14455347729.

rs1445534772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:31695587 (GRCh38)
7:31735201 (GRCh37)
Canonical SPDI:: NC_000007.14:31695586:T:G
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.31695587T>G, NC_000007.13:g.31735201T>G, NG_051183.1:g.737638A>C, NG_023417.1:g.13571T>G, NM_006658.5:c.201T>G, NM_006658.4:c.201T>G, XR_926912.4:n.329T>G, XR_926912.3:n.329T>G, XR_926912.2:n.359T>G, XR_926912.1:n.359T>G, XM_011515094.3:c.201T>G, XM_011515094.2:c.201T>G, XM_011515094.1:c.201T>G, XR_007059983.1:n.329T>G, NP_006649.2:p.Asp67Glu, XP_011513396.1:p.Asp67Glu

Select item 144494074910.

rs1444940749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:31692487 (GRCh38)
7:31732101 (GRCh37)
Canonical SPDI:: NC_000007.14:31692486:A:T
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.31692487A>T, NC_000007.13:g.31732101A>T, NG_051183.1:g.740738T>A, NG_023417.1:g.10471A>T, NM_006658.5:c.46A>T, NM_006658.4:c.46A>T, NM_001145123.3:c.46A>T, NM_001145123.2:c.46A>T, XR_926912.4:n.174A>T, XR_926912.3:n.174A>T, XR_926912.2:n.204A>T, XR_926912.1:n.204A>T, XM_011515094.3:c.46A>T, XM_011515094.2:c.46A>T, XM_011515094.1:c.46A>T, XR_007059983.1:n.174A>T, NP_006649.2:p.Arg16Ter, NP_001138595.1:p.Arg16Ter, XP_011513396.1:p.Arg16Ter

Select item 144230051611.

rs1442300516 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTA>- [Show Flanks]
Chromosome:: 7:31707279 (GRCh38)
7:31746893 (GRCh37)
Canonical SPDI:: NC_000007.14:31707276:TATTTA:TA
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.31707279_31707282del, NC_000007.13:g.31746893_31746896del, NG_051183.1:g.725945_725948del, NG_023417.1:g.25263_25266del, NM_006658.5:c.464_467del, NM_006658.4:c.464_467del, NM_001145123.3:c.311_314del, NM_001145123.2:c.311_314del, XR_926912.4:n.592_595del, XR_926912.3:n.592_595del, XR_926912.2:n.622_625del, XR_926912.1:n.622_625del, XM_011515094.3:c.464_467del, XM_011515094.2:c.464_467del, XM_011515094.1:c.464_467del, XR_007059983.1:n.592_595del, NP_006649.2:p.Ile155fs, NP_001138595.1:p.Ile104fs, XP_011513396.1:p.Ile155fs

Select item 144218327912.

rs1442183279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:31697096 (GRCh38)
7:31736710 (GRCh37)
Canonical SPDI:: NC_000007.14:31697095:C:A,NC_000007.14:31697095:C:T
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.31697096C>A, NC_000007.14:g.31697096C>T, NC_000007.13:g.31736710C>A, NC_000007.13:g.31736710C>T, NG_051183.1:g.736129G>T, NG_051183.1:g.736129G>A, NG_023417.1:g.15080C>A, NG_023417.1:g.15080C>T, NM_006658.5:c.367C>A, NM_006658.5:c.367C>T, NM_006658.4:c.367C>A, NM_006658.4:c.367C>T, NM_001145123.3:c.214C>A, NM_001145123.3:c.214C>T, NM_001145123.2:c.214C>A, NM_001145123.2:c.214C>T, XR_926912.4:n.495C>A, XR_926912.4:n.495C>T, XR_926912.3:n.495C>A, XR_926912.3:n.495C>T, XR_926912.2:n.525C>A, XR_926912.2:n.525C>T, XR_926912.1:n.525C>A, XR_926912.1:n.525C>T, XM_011515094.3:c.367C>A, XM_011515094.3:c.367C>T, XM_011515094.2:c.367C>A, XM_011515094.2:c.367C>T, XM_011515094.1:c.367C>A, XM_011515094.1:c.367C>T, XR_007059983.1:n.495C>A, XR_007059983.1:n.495C>T, NP_006649.2:p.His123Asn, NP_006649.2:p.His123Tyr, NP_001138595.1:p.His72Asn, NP_001138595.1:p.His72Tyr, XP_011513396.1:p.His123Asn, XP_011513396.1:p.His123Tyr

Select item 143908175713.

rs1439081757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:31707230 (GRCh38)
7:31746844 (GRCh37)
Canonical SPDI:: NC_000007.14:31707229:C:A,NC_000007.14:31707229:C:G
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.31707230C>A, NC_000007.14:g.31707230C>G, NC_000007.13:g.31746844C>A, NC_000007.13:g.31746844C>G, NG_051183.1:g.725995G>T, NG_051183.1:g.725995G>C, NG_023417.1:g.25214C>A, NG_023417.1:g.25214C>G, NM_006658.5:c.415C>A, NM_006658.5:c.415C>G, NM_006658.4:c.415C>A, NM_006658.4:c.415C>G, NM_001145123.3:c.262C>A, NM_001145123.3:c.262C>G, NM_001145123.2:c.262C>A, NM_001145123.2:c.262C>G, XR_926912.4:n.543C>A, XR_926912.4:n.543C>G, XR_926912.3:n.543C>A, XR_926912.3:n.543C>G, XR_926912.2:n.573C>A, XR_926912.2:n.573C>G, XR_926912.1:n.573C>A, XR_926912.1:n.573C>G, XM_011515094.3:c.415C>A, XM_011515094.3:c.415C>G, XM_011515094.2:c.415C>A, XM_011515094.2:c.415C>G, XM_011515094.1:c.415C>A, XM_011515094.1:c.415C>G, XR_007059983.1:n.543C>A, XR_007059983.1:n.543C>G, NP_006649.2:p.Pro139Thr, NP_006649.2:p.Pro139Ala, NP_001138595.1:p.Pro88Thr, NP_001138595.1:p.Pro88Ala, XP_011513396.1:p.Pro139Thr, XP_011513396.1:p.Pro139Ala

Select item 143592677314.

rs1435926773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:31696978 (GRCh38)
7:31736592 (GRCh37)
Canonical SPDI:: NC_000007.14:31696977:A:G,NC_000007.14:31696977:A:T
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.31696978A>G, NC_000007.14:g.31696978A>T, NC_000007.13:g.31736592A>G, NC_000007.13:g.31736592A>T, NG_051183.1:g.736247T>C, NG_051183.1:g.736247T>A, NG_023417.1:g.14962A>G, NG_023417.1:g.14962A>T, NM_006658.5:c.249A>G, NM_006658.5:c.249A>T, NM_006658.4:c.249A>G, NM_006658.4:c.249A>T, NM_001145123.3:c.96A>G, NM_001145123.3:c.96A>T, NM_001145123.2:c.96A>G, NM_001145123.2:c.96A>T, XR_926912.4:n.377A>G, XR_926912.4:n.377A>T, XR_926912.3:n.377A>G, XR_926912.3:n.377A>T, XR_926912.2:n.407A>G, XR_926912.2:n.407A>T, XR_926912.1:n.407A>G, XR_926912.1:n.407A>T, XM_011515094.3:c.249A>G, XM_011515094.3:c.249A>T, XM_011515094.2:c.249A>G, XM_011515094.2:c.249A>T, XM_011515094.1:c.249A>G, XM_011515094.1:c.249A>T, XR_007059983.1:n.377A>G, XR_007059983.1:n.377A>T, NP_006649.2:p.Glu83Asp, NP_001138595.1:p.Glu32Asp, XP_011513396.1:p.Glu83Asp

Select item 143016333015.

rs1430163330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:31707256 (GRCh38)
7:31746870 (GRCh37)
Canonical SPDI:: NC_000007.14:31707255:A:C
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.31707256A>C, NC_000007.13:g.31746870A>C, NG_051183.1:g.725969T>G, NG_023417.1:g.25240A>C, NM_006658.5:c.441A>C, NM_006658.4:c.441A>C, NM_001145123.3:c.288A>C, NM_001145123.2:c.288A>C, XR_926912.4:n.569A>C, XR_926912.3:n.569A>C, XR_926912.2:n.599A>C, XR_926912.1:n.599A>C, XM_011515094.3:c.441A>C, XM_011515094.2:c.441A>C, XM_011515094.1:c.441A>C, XR_007059983.1:n.569A>C, NP_006649.2:p.Glu147Asp, NP_001138595.1:p.Glu96Asp, XP_011513396.1:p.Glu147Asp

Select item 142955913216.

rs1429559132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:31695489 (GRCh38)
7:31735103 (GRCh37)
Canonical SPDI:: NC_000007.14:31695488:A:G,NC_000007.14:31695488:A:T
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.31695489A>G, NC_000007.14:g.31695489A>T, NC_000007.13:g.31735103A>G, NC_000007.13:g.31735103A>T, NG_051183.1:g.737736T>C, NG_051183.1:g.737736T>A, NG_023417.1:g.13473A>G, NG_023417.1:g.13473A>T, NM_006658.5:c.103A>G, NM_006658.5:c.103A>T, NM_006658.4:c.103A>G, NM_006658.4:c.103A>T, XR_926912.4:n.231A>G, XR_926912.4:n.231A>T, XR_926912.3:n.231A>G, XR_926912.3:n.231A>T, XR_926912.2:n.261A>G, XR_926912.2:n.261A>T, XR_926912.1:n.261A>G, XR_926912.1:n.261A>T, XM_011515094.3:c.103A>G, XM_011515094.3:c.103A>T, XM_011515094.2:c.103A>G, XM_011515094.2:c.103A>T, XM_011515094.1:c.103A>G, XM_011515094.1:c.103A>T, XR_007059983.1:n.231A>G, XR_007059983.1:n.231A>T, NP_006649.2:p.Ile35Val, NP_006649.2:p.Ile35Phe, XP_011513396.1:p.Ile35Val, XP_011513396.1:p.Ile35Phe

Select item 141072394917.

rs1410723949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:31695598 (GRCh38)
7:31735212 (GRCh37)
Canonical SPDI:: NC_000007.14:31695597:T:G
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.31695598T>G, NC_000007.13:g.31735212T>G, NG_051183.1:g.737627A>C, NG_023417.1:g.13582T>G, NM_006658.5:c.212T>G, NM_006658.4:c.212T>G, XR_926912.4:n.340T>G, XR_926912.3:n.340T>G, XR_926912.2:n.370T>G, XR_926912.1:n.370T>G, XM_011515094.3:c.212T>G, XM_011515094.2:c.212T>G, XM_011515094.1:c.212T>G, XR_007059983.1:n.340T>G, NP_006649.2:p.Leu71Arg, XP_011513396.1:p.Leu71Arg

Select item 140529840318.

rs1405298403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:31692515 (GRCh38)
7:31732129 (GRCh37)
Canonical SPDI:: NC_000007.14:31692514:G:T
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.31692515G>T, NC_000007.13:g.31732129G>T, NG_051183.1:g.740710C>A, NG_023417.1:g.10499G>T, NM_006658.5:c.74G>T, NM_006658.4:c.74G>T, NM_001145123.3:c.74G>T, NM_001145123.2:c.74G>T, XR_926912.4:n.202G>T, XR_926912.3:n.202G>T, XR_926912.2:n.232G>T, XR_926912.1:n.232G>T, XM_011515094.3:c.74G>T, XM_011515094.2:c.74G>T, XM_011515094.1:c.74G>T, XR_007059983.1:n.202G>T, NP_006649.2:p.Ser25Ile, NP_001138595.1:p.Ser25Ile, XP_011513396.1:p.Ser25Ile

Select item 140288504719.

rs1402885047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:31696965 (GRCh38)
7:31736579 (GRCh37)
Canonical SPDI:: NC_000007.14:31696964:G:T
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.31696965G>T, NC_000007.13:g.31736579G>T, NG_051183.1:g.736260C>A, NG_023417.1:g.14949G>T, NM_006658.5:c.236G>T, NM_006658.4:c.236G>T, NM_001145123.3:c.83G>T, NM_001145123.2:c.83G>T, XR_926912.4:n.364G>T, XR_926912.3:n.364G>T, XR_926912.2:n.394G>T, XR_926912.1:n.394G>T, XM_011515094.3:c.236G>T, XM_011515094.2:c.236G>T, XM_011515094.1:c.236G>T, XR_007059983.1:n.364G>T, NP_006649.2:p.Gly79Val, NP_001138595.1:p.Gly28Val, XP_011513396.1:p.Gly79Val

Select item 139737855920.

rs1397378559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:31696966 (GRCh38)
7:31736580 (GRCh37)
Canonical SPDI:: NC_000007.14:31696965:T:A,NC_000007.14:31696965:T:C
Gene:: PDE1C (Varview), PPP1R17 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.31696966T>A, NC_000007.14:g.31696966T>C, NC_000007.13:g.31736580T>A, NC_000007.13:g.31736580T>C, NG_051183.1:g.736259A>T, NG_051183.1:g.736259A>G, NG_023417.1:g.14950T>A, NG_023417.1:g.14950T>C, NM_006658.5:c.237T>A, NM_006658.5:c.237T>C, NM_006658.4:c.237T>A, NM_006658.4:c.237T>C, NM_001145123.3:c.84T>A, NM_001145123.3:c.84T>C, NM_001145123.2:c.84T>A, NM_001145123.2:c.84T>C, XR_926912.4:n.365T>A, XR_926912.4:n.365T>C, XR_926912.3:n.365T>A, XR_926912.3:n.365T>C, XR_926912.2:n.395T>A, XR_926912.2:n.395T>C, XR_926912.1:n.395T>A, XR_926912.1:n.395T>C, XM_011515094.3:c.237T>A, XM_011515094.3:c.237T>C, XM_011515094.2:c.237T>A, XM_011515094.2:c.237T>C, XM_011515094.1:c.237T>A, XM_011515094.1:c.237T>C, XR_007059983.1:n.365T>A, XR_007059983.1:n.365T>C

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